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Disease Ontology Browser
Muenke Syndrome (DOID:0060703)
Alliance: disease page
Synonyms: FGFR3-related craniosynostosis
Alt IDs: OMIM:602849, MESH:C537369, NCI:C84904, ORDO:53271, UMLS_CUI:C1864436
Definition: A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory